Visualization of regulatory element with DNMs in transcripts



Visualization of de novo variants in transcripts


Visualization of original de novo CNV set
   There is no corresponding data published yet, we will update it when such data available.

Transcripts
Transcript ID Transcript exon region Coding exon region
ENST00000447036 [[96068470, 96068620], [96071024, 96071150], [96071300, 96071551], [96072688, 96072905], [96076274, 96076334], [96076611, 96076774], [96078181, 96078290], [96078424, 96078512], [96078642, 96078844]] [[96071306, 96071551], [96072688, 96072905], [96076274, 96076334], [96076611, 96076774], [96078181, 96078290], [96078424, 96078512], [96078642, 96078705]]
ENST00000233379 [[96068473, 96068620], [96071300, 96071551], [96072688, 96072905], [96076274, 96076334], [96076611, 96076774], [96078181, 96078290], [96078424, 96078512], [96078642, 96082364]] [[96071306, 96071551], [96072688, 96072905], [96076274, 96076334], [96076611, 96076774], [96078181, 96078290], [96078424, 96078512], [96078642, 96078705]]
ENST00000470100 [[96072685, 96072905], [96076274, 96076774], [96078181, 96078290], [96078424, 96078530]] None
ENST00000445649 [[96068468, 96068740], [96071300, 96071550]] [[96071306, 96071550]]
ENST00000418606 [[96068538, 96068740], [96071024, 96071150], [96071300, 96071551], [96072688, 96072824]] [[96071306, 96071551], [96072688, 96072824]]
ENST00000463940 [[96071021, 96071150], [96071300, 96071551], [96072688, 96073261]] None
NM_016044 [[96068447, 96068620], [96071300, 96071551], [96072688, 96072905], [96076274, 96076334], [96076611, 96076774], [96078181, 96078290], [96078424, 96078512], [96078642, 96078879]] [[96071306, 96071551], [96072688, 96072905], [96076274, 96076334], [96076611, 96076774], [96078181, 96078290], [96078424, 96078512], [96078642, 96078705]]
Promoter
Chrom Start End Description
chr2 96068436 96068518 CAGE_peak_1_at_FAHD2A_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr2 GH02I095384 95384245 95386531 0.68 [{'connected_gene': 'ZNF514', 'score': 10.45}, {'connected_gene': 'FAHD2A', 'score': 0.37}, {'connected_gene': 'FABP7P2', 'score': 0.37}, {'connected_gene': 'KCNIP3', 'score': 0.17}]
chr2 GH02I095729 95729013 95729162 0.69 [{'connected_gene': 'FAHD2A', 'score': 11.41}, {'connected_gene': 'GC02M095699', 'score': 0.31}, {'connected_gene': 'LOC105373492', 'score': 0.21}, {'connected_gene': 'GC02M095672', 'score': 0.07}]
chr2 GH02I095401 95401482 95403859 2.01 [{'connected_gene': 'FAHD2A', 'score': 550.77}, {'connected_gene': 'GC02M095402', 'score': 0.44}, {'connected_gene': 'FABP7P2', 'score': 0.29}]
chr2 GH02I095389 95389273 95393910 0.91 [{'connected_gene': 'LOC101926959', 'score': 21.35}, {'connected_gene': 'ZNF514', 'score': 11.21}, {'connected_gene': 'CIAO1', 'score': 4.16}, {'connected_gene': 'FAHD2A', 'score': 0.39}, {'connected_gene': 'FABP7P2', 'score': 0.34}]